Benign fleck retina.

British Journal of Ophthalmology 1996; 80: 267-269
LETTERS TO THE EDITOR
Benign fleck retina
EDITOR,-We report a case of flecked retinal
dystrophy in a child of mixed Australian aboriginal
and white descent. Both fundi showed
widespread discrete yellow-white fleck lesions
at the level of retinal pigment epithelium,
extending to the far periphery but sparing the
macular region. Visual acuity was normal and
the electroretinogram showed no abnormality.
To our knowledge no other family members
are affected, and there is no history of
consanguinity between the parents. The phenotype
appears similar to the 'benign familial
fleck retina' described by Aish and Dajani,1
and we believe this to be the first published
report of such a case since the original
description in 1980.
CASE REPORT
A 12-year-old girl was referred after her
optometrist noted areas of retinal abnormality
on ophthalmoscopy after a routine refraction.
She complained of occasional headaches, but
had no specific ocular symptoms and was in
good general health. Drug or substance abuse
was denied. There was no history of maternal
illness or nutritional deficiency during pregnancy,
and the patient was born at full term.
Visual and general development were reportedly
normal during infancy and early childhood,
and the mother noted no signs of poor
daytime or night vision in any of her three
children.
The child was of mixed ethnic origin, the
non-consanguineous parents both being of
mixed Australian aboriginal and white
descent, and there was no family history of
ocular or systemic disease other than the
recent development of maturity onset diabetes
mellitus in the mother.
General examination found no evidence of
skin depigmentation or vitiligo. Visual
acuities were 6/9 right with +0 50 DS/- 1-00
DCX 180 degrees, 6/6 left with +0 50 DS.
Slit-lamp examination of anterior segments
and vitreous was normal. Funduscopy
revealed a striking pattern of multiple yellowwhite
flecks situated at a level deep to the retinal
vessels, affecting both fundi in a
symmetrical pattern (Fig 1). The lesions were
distributed in a concentric pattern around the
posterior fundus but sparing the optic disc,
papillomacular bundle, and the peripapillary
area for a distance of 1 disc diameter except
inferiorly, where there was involvement to the
margin of the optic disc. No part of the equatorial,
peripheral, or far peripheral retina was
spared. The shape of the flecks was highly
variable. The most centrally located lesions
were roughly round or oblong in shape, and
approximately the diameter of a third order
arteriole. With increasing distance from the
central macula, the flecks tended to become
much larger and confluent, up to 1/2 disc
diameter in size across the largest dimension.
The more peripheral flecks showed greater
variability in shape, with linear, geographical,
or amoeboid outlines and smooth sinuous
margins. On stereoscopic slit-lamp biomicroscopy,
the fleck lesions appeared flat, with
no evidence of accumulated material within
or anterior to retinal pigment epithelial cells.
There was no evidence of pigment migration,
although several of the larger lesions enclosed
areas of normnally pigmented retina, giving the
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Fig IA Fig 2A
Fig 11 Pig 2B
Figure 2 Fundusfluorescein angiograms.
(A) Right eye, venous phase. (B) Left eye,
arteriovenous phase. Retinal and choroidal
vascularfilling is normal. There is diffuse
irregular hyperfluorescence throughout both
fundi, which does not correspond to the fleck
lesions, suggesting a diffuse abnormality of
retinal pigment epithelium.
Fig IC
Fig ID
Figure 1 (A) Right and (B) left posterior
poles, showing symmetrical pattern ofyellowwhite
fleck lesions deep to the retinal vessels and
sparing the maculae. Right eye (C) temporal
and (D) nasal peripheral retina. Note the
increase in size of thefleck lesions towards the
periphery and the absence ofpigment migration.
Islands of normally pigmented retina are enclosed
by larger confluentfleck lesions (C, arrowed).
appearance of a central pigment clump (Fig
1C, arrowed). No calcification was seen, and
choroidal vessels were not visible at the base
of the flecks. Fundus fluorescein angiography
revealed patchy, fine, irregular hyperfluorescence
throughout the fundus which did not
correspond to the fleck lesions (Fig 2).
267
Colour vision testing with Ishihara plates
and the Farnsworth dichotomous (D- 15) test
was normal in each eye. Electro-oculogram
(EOG) Arden ratios were at the lower end of
the normal range at 1-7 and 1-6 in right and
left eyes, respectively. The full field electroretinogram
(ERG) was recorded under
photopic and scotopic conditions (Fig 3), and
was normal except for a slight delay in the bwave
latency from the left eye during 30 Hz
flicker stimulation.
At follow up examination 18 months later
the headaches had resolved and there were no
new ocular symptoms. Visual acuities and
funduscopic appearances were unchanged.
Both parents and the only sister of the
proband have been examined. All are asymptomatic,
and funduscopy is normal in each
case.The patient's remaining sibling, an older
brother, is asymptomatic and has indicated
that he is unwilling to undergo ophthalmic
examination.
COMMENT
Our case is characterised by the presence of
widespread discrete yellow-white fleck
lesions affecting both fundi of an asymptomatic
child of mixed Australian aboriginal
descent. The macular region is spared and
functional testing has revealed no significant
abnormality. Stereo slit-lamp biomicroscopy
suggests that the location of the flecks is subretinal,
yet has revealed no evidence of either
atrophic or hypertrophic retinal pigment
epithelial cells. Fluorescein angiography is
unhelpful in elucidating the precise nature of
the retinal dystrophy, since the flecks show

268
Z A B
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400
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200
D 100
0)
0 0
z
C-100
-200
Z A B
L+A in
White light scotopic stimulation
Right eye
[9, GY1867. V12]
10 sweeps
Z
400 r-
A EB
200
-200
-400 _
White light photopic stimulation
[11, GY1867. V12]
10 sweeps
100 ms
0
Z A B I
200 r
100
0
-100
-200 _
*- i \
Figure 3 Fullfield Ganzfeld electroretinogram (ERG). Upper traces show scotopic ERG elicited by
a single whiteflash in the dark adapted eye: A-wave latency 25-5 ms RE, 2517 ms LE (normal range
24-4-28-1 ms), amplitude 121-0 ,uVRE, 131-0 ,AVLE (normal range 561-1-85-2 pV). B-wave
latency 48-0 ms RE, 47-8 ms LE (43-8-53-1 ms) and amplitude 548-0 ,uVPRE, 616-0 ,uVLE
(348-0-679-6 p.V'). Lower traces show photopic ERG response to a single white flash: A-wave
latency 16-6 ms in each eye (normal range 16-5-18-9 ms) and amplitude 27-0 ,uVRE, 28-0 p.V
LE. B-wave latency 30-7 ms RE, 31-0 ms LE (27-5-31-8 ms)and amplitude 121-0 puVRE, 151-0
,uVLE (39-1-207-1 ttf'). All normal range values represent mean (2 SD).
neither a 'window defect' suggesting depigmentation,
nor hypofluorescence, which
might suggest an abnormal accumulation
of material within retinal pigment epithelium
cells. Instead, the mild generalised
irregular hyperfluorescence suggests merely
a diffuse abnormality of retinal pigment
epithelium.
The occurrence of a marbelised fundus in
asymptomatic patients is rare. Aish and
Dajani have described an Arab Palestinian
family with clinical features which appear to
closely resemble those of our patient.' In this
pedigree, the parents were phenotypically
normal first cousins. Seven out of 10 of their
offspring showed massive invasion of both
fundi by bright white or yellow fleck lesions
situated behind the retinal blood vessels, and
always sparing the macula. Visual findings
were normal in all cases. The probable mode
of inheritance within this family was autosomal
recessive, since both sexes were involved,
and the consanguineous parents were unaffected.
Krogh et al have described an asymptomatic
31-year-old woman with normal
visual acuity, with bilateral retinal flecks in the
mid periphery of both eyes.2 The flecks
became more dense in the periphery, where
they formed a palisade pattern quite unlike
that of our case. Functional testing revealed
an absent EOG light rise in one eye but was
otherwise normal. More recently, a case of
bilateral 'breadcrumb' flecked retinopathy
with normal fluorescein angiography and
normal electrophysiological findings has been
reported in a 9-year-old girl. However, this
child also had an idiopathic seizure disorder
which had been controlled medically for 6
years, subnormal intelligence, gross motor
and developmental delay, and esotropia.3 The
size and shape of the retinal flecks in this case
are not described in detail, but the published
photographs appear to demonstrate a more
uniform size and more irregular margins to
the flecks than in our patient, with a more
linear distribution of flecks and a greater
area of normal appearing retina between the
flecks.
A marbelised fundus appearance has also
been reported as a rare finding in Leber's
congenital amaurosis.46 In this variant,
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yellowish lesions are seen deep to the retinal
vessels in a periarteriolar distribution, and
there may be associated systemic abnormalities,
including medullary cystic renal disease
(juvenile nephronophthisis).7 The other clinical
features and absent ERG response of
Leber's amaurosis make confusion with our
case unlikely. However, it is interesting to
note in such cases that a marbelised fundus
may be incidental to visual functional abnormalities.
We suggest that our case represents either
a new mutation of the condition described,
or possibly an autosomal recessive disorder,
since both parents are phenotypically
normal.
We wish to thank the Department of Medical
Technology and Physics, Sir Charles Gairdner
Hospital, for performing the electrophysiological
testing.
TIMOTHY W ISAACS
IAN L McALLISTER
MATTHEW S WADE
Department of Ophthalmology,
Royal Perth Hospital,
Wellington Street,
Perth, Western Australia 6001,
Australia
Correspondence to: Mr Timothy W Isaacs, Lions
Eye Institute, 2 Verdun Street, Nedlands, Western
Australia, WA 6009, Australia.
Accepted for publication 11 October 1995
1 Aish SFS, Dajani B. Benign familial fleck retina.
BrJ Ophthalmol 1980; 64: 652-9.
2 Krogh E, Reersted P, Holm K. Flecked retina
syndrome with palisade appearance in the
periphery. A case study with a family investigation.
Int Ophthalmol 1980; 2: 77-80.
3 Protzko EE, Schatz H, Raymond WR 4th,
McDonald HR, Johnson RN. Bread crumbflecked
retinopathy. Retina 1992; 12: 21-3.
4 Franceschetti A, Forni S. Degenerescence tapetoretinienne
(type Leber) avec aspect marbre du
fond de l'oeil peripherique. Ophtalmologica
1958; 135: 610-8.
5 Chew E, Deutman A, Pinckers A, Aan De Kerk
A. Yellowish flecks in Leber's congenital
amaurosis. BrJ_ Ophthalmol 1984; 68: 727-31.
6 Schroeder R, Mets MB, Maumenee IH. Leber's
congenital amaurosis. Retrospective review of
43 cases and a new fundus finding in two cases.
Arch Ophthalmol 1987; 105: 356-9.
7 Ticho B, Sieving PA. Leber's congenital amaurosis
with marbelized fundus and juvenile
nephronophthisis. Am Ophthalmol 1989; 107:
426-8.
Letters
Brown's syndrome as a complication of
Left eye I
r. ,,% %, I- - -- t 1. -1
19, GY1867. V12I
cardiopulmonary resuscitation
EDITOR,-Brown's syndrome is a well
150 ms
[1 GY1867. Vl12]
100 ms
_ I
recognised ocular motility disorder which may
be congenital or acquired. Regardless of
aetiology it manifests itself clinically with
restriction to both active and passive elevation
in adduction, minimal or only slight limitation
to elevation in abduction, occasionally a
downshoot of the affected eye in adduction
and, in more severely affected cases, a primary
position hypotropia with an associated abnormal
head posture. The head posture consists
of a chin-up head position with a face turned
away from the affected side or a variable head
tilt. Other features less commonly seen are a
'V' pattern resulting from divergence in
upgaze and widening of the palpebral fissure
on adduction.1
CASE REPORT
We report a case of acquired Brown's syndrome
in a 2-year-old girl without a history of
ocular motility defects, who accidentally fell
into the family swimming pool and was found
cyanotic, face down in the water. Her mother,
trained in cardiopulmonary resuscitation,
rescued her from the pool and successfully
resuscitated her using nasal compression,
mouth to mouth ventilation, and cardiac
massage. The patient was transferred to the
Children's Hospital of Pittsburgh and, after a
short period of artificial ventilation, made a
full recovery. A computed tomography brain
scan did not reveal any abnormality.
After hospitalisation it was noted that the
child had developed a mild chin-up head
posture. One week later her vision was 20/30
in each eye using Allen figures, she was
orthophoric in the primary position of gaze,
had a chin-up head posture without head tilt
or face turn, and ocular versions revealed
limitation of elevation in adduction (Fig 1).
There was no evidence of superior oblique
muscle overaction or downshoot in adduction.
In addition, the right superior rectus
muscle did not demonstrate overaction and
there was some divergence in upgaze which
helped to differentiate this entity from an isolated
left inferior oblique paresis. She demonstrated
100 seconds of arc stereoacuity and
had normal fusion for both distance and near
using the Worth 4 dot test in the primary
position of gaze. Magnetic resonance imaging
of the orbits was normal and did not reveal
any evidence of trochlear disinsertion or
swelling. The orbital floor was intact. When
the patient was considered sufficiently mature
we performed forced duction testing under
local anaesthesia which confirmed the diagnosis.
The patient was 3 years old at this time.
We did not feel it necessary to subject the
patient to general anaesthesia when she first
presented in order to confirm the diagnosis,
particularly in light of her near drowning
event.
This patient has been followed for 18
months and the restriction to elevation in
adduction has improved significantly. As the
patient did not have a significant head tilt and
was orthophoric in primary position surgical
intervention was not required.
COMMENT
Acquired Brown's syndrome has been
reported following traumatic events occurring
in the region of the trochlea; these include
peribulbar anaesthesia,2 orbital surgery,3
orbital roof fracture with superior oblique

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Notes
Benign fleck retina.
T W Isaacs, I L McAllister and M S Wade
Br J Ophthalmol 1996 80: 267-268
doi: 10.1136/bjo.80.3.267
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